Canonical Allele Identifier: CA393164548
Gene: CYP1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74720747G>T , CM000677.2:g.74720747G>T GRCh38
NC_000015.9:g.75013088G>T , CM000677.1:g.75013088G>T GRCh37
NC_000015.8:g.72800141G>T NCBI36
NG_008431.1:g.3206G>T
NG_008431.2:g.3206G>T
NG_061374.1:g.9782C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379727.8:c.1281C>A MANE Select ENSP00000369050.3:p.Phe427Leu
ENST00000379727.7:c.1281C>A ENSP00000369050.3:p.Phe427Leu
ENST00000395048.6:c.1281C>A ENSP00000378488.2:p.Phe427Leu
ENST00000395049.8:c.1194C>A ENSP00000378489.4:p.Phe398Leu
ENST00000562201.5:c.*518C>A ENSP00000455340.1:n.*518C>A
ENST00000564596.5:c.*216C>A ENSP00000457668.1:n.*216C>A
ENST00000566503.1:c.498C>A ENSP00000455846.1:p.Phe166Leu
ENST00000567032.5:c.1281C>A ENSP00000456585.1:p.Phe427Leu
ENST00000569630.5:c.*870C>A ENSP00000455051.1:n.*870C>A
ENST00000612821.4:c.1197C>A ENSP00000479744.1:p.Phe399Leu
ENST00000617691.4:c.1194C>A ENSP00000482863.1:p.Phe398Leu
NM_000499.3:c.1281C>A NP_000490.1:p.Phe427Leu
XM_005254185.1:c.1281C>A XP_005254242.1:p.Phe427Leu
NM_000499.5:c.1281C>A NP_000490.1:p.Phe427Leu
NM_001319216.2:c.1194C>A NP_001306145.1:p.Phe398Leu
NM_001319217.2:c.1281C>A MANE Select NP_001306146.1:p.Phe427Leu